Angelman Syndrome is characterized mostly by neurological symptoms - mental retardation, ataxia, epilepsy, characteristic “puppet-like movements”, laughing with no reason.
First symptoms of the disorders are noticeable after 6-9 months of age.
Speech is usually absent of severely impaired.

Type of analysis

Molecular

Type of biological material

5 ml peripheral blood collected in the EDTA tube

Analyzed genes

SNRPN; SMALL NUCLEAR RIBONUCLEOPROTEIN POLYPEPTIDE N;

Analysis description

Analysis of the methylation pattern of SNRPN locus. MS-PCR method allows for detection of normal and aberrant SNRPN methylation pattern.

Analysis indication

Mental retardation, dysmorphia with neurological signs, which may suggest appearance of this disorder